Altered White Matter Organization in the TUBB3 E410K Syndrome

Seven unrelated individuals (four pediatric, three adults) with the TUBB3 E410K syndrome, harboring identical de novo heterozygous TUBB3 c.1228 G>A mutations, underwent neuropsychological testing and neuroimaging. Despite the absence of cortical malformations, they have intellectual and social di...

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Bibliografische gegevens
Gepubliceerd in:Cereb Cortex
Hoofdauteurs: Grant, P Ellen, Im, Kiho, Ahtam, Banu, Laurentys, Cynthia T, Chan, Wai-Man, Brainard, Maya, Chew, Sheena, Drottar, Marie, Robson, Caroline D, Drmic, Irene, Engle, Elizabeth C
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2019
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Original Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6644882/
https://ncbi.nlm.nih.gov/pubmed/30272120
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/cercor/bhy231
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